ArticleScientific reports2015
SRSF1 and hnRNP H antagonistically regulate splicing of COLQ exon 16 in a congenital myasthenic syndrome.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 39 citations in OpenAlex.
- RNA localization to nuclear speckles follows splicing logic.Nucleic acids research · 2026Article
- SRSF6 and SRSF1 coordinately enhance the inclusion of humanNAR molecular medicine · 2025Article
- Evolution and stress response potential of the plant splicing factor U1C.Scientific reports · 2024Article
- Identification and characterization of a novel intronic splicing mutation in CSF1R-related leukoencephalopathy.CNS neuroscience & therapeutics · 2024Article
- Article
- Splicing regulation of GFPT1 muscle-specific isoform and its roles in glucose metabolisms and neuromuscular junction.iScience · 2023Article
- Neural Isoforms of Agrin Are Generated by Reduced PTBP1-RNA Interaction Network Spanning the Neuron-Specific Splicing Regions inInternational journal of molecular sciences · 2023Article
- RNA Transcript Diversity in Neuromuscular Research.Journal of neuromuscular diseases · 2023Review
- Phosphorylation mediated regulation of RNA splicing in plants.Frontiers in plant science · 2023Review
- RNA Targeting in Inherited Neuromuscular Disorders: Novel Therapeutic Strategies to Counteract Mis-Splicing.Cells · 2021Review
- Phylogenetic comparison and splice site conservation of eukaryotic U1 snRNP-specific U1-70K gene family.Scientific reports · 2021Article
- Phylogenetic comparison and splice site conservation of eukaryotic U1 snRNP-specific U1-70K gene family.Scientific reports · 2021Article
- Identification of SRSF10 as a regulator of SMN2 ISS-N1.Human mutation · 2021Article
- Phylogenetic Comparison and Splicing Analysis of the U1 snRNP-specific Protein U1C in Eukaryotes.Frontiers in molecular biosciences · 2021Article
- Splicing Enhancers at Intron-Exon Borders Participate in Acceptor Splice Sites Recognition.International journal of molecular sciences · 2020Article
- Tumor Interferon Signaling Is Regulated by a lncRNA INCR1 Transcribed from the PD-L1 Locus.Molecular cell · 2020Article
- Estrogen-related receptor β activation and isoform shifting by cdc2-like kinase inhibition restricts migration and intracranial tumor growth in glioblastoma.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
- Skipping of an exon with a nonsense mutation in the DMD gene is induced by the conversion of a splicing enhancer to a splicing silencer.Human genetics · 2019Article
- Exploring the suitability of RanBP2-type Zinc Fingers for RNA-binding protein design.Scientific reports · 2019Article
- Predicting gene structure changes resulting from genetic variants via exon definition features.Bioinformatics (Oxford, England) · 2018Article
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
Abstract
The catalytic subunits of acetylcholinesterase (AChE) are anchored in the basal lamina of the neuromuscular junction using a collagen-like tail subunit (ColQ) encoded by COLQ. Mutations in COLQ cause endplate AChE deficiency. An A-to-G mutation predicting p.E415G in COLQ exon 16 identified in a patient with endplate AChE deficiency causes exclusive skipping of exon 16. RNA affinity purification, mass spectrometry, and siRNA-mediated gene knocking down disclosed that the mutation disrupts binding of a splicing-enhancing RNA-binding protein, SRSF1, and de novo gains binding of a splicing-suppressing RNA-binding protein, hnRNP H. MS2-mediated artificial tethering of each factor demonstrated that SRSF1 and hnRNP H antagonistically modulate splicing by binding exclusively to the target in exon 16. Further analyses with artificial mutants revealed that SRSF1 is able to bind to degenerative binding motifs, whereas hnRNP H strictly requires an uninterrupted stretch of poly(G). The mutation compromised splicing of the downstream intron. Isolation of early spliceosome complex revealed that the mutation impairs binding of U1-70K (snRNP70) to the downstream 5' splice site. Global splicing analysis with RNA-seq revealed that exons carrying the hnRNP H-binding GGGGG motif are predisposed to be skipped compared to those carrying the SRSF1-binding GGAGG motif in both human and mouse brains.
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